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Volumn 84, Issue 1, 2013, Pages 97-98

Prenatal diagnostic conundrum involving a novel ATP7A duplication

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MENKES PROTEIN;

EID: 84879797716     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12041     Document Type: Letter
Times cited : (2)

References (7)
  • 2
    • 84872073998 scopus 로고    scopus 로고
    • Incidental copy-number variants identified by routine genome testing in a clinical population
    • DOI: 10.1038/gim.2012.95.
    • Boone PM, Soens ZT, Campbell IM et al. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 2012. DOI: 10.1038/gim.2012.95.
    • (2012) Genet Med
    • Boone, P.M.1    Soens, Z.T.2    Campbell, I.M.3
  • 3
    • 78651355486 scopus 로고    scopus 로고
    • The neurology of ATP7A copper transporter disease: emerging concepts and future trends
    • Kaler SG. The neurology of ATP7A copper transporter disease: emerging concepts and future trends. Nat Rev Neurol 2011: 7: 15-29.
    • (2011) Nat Rev Neurol , vol.7 , pp. 15-29
    • Kaler, S.G.1
  • 4
    • 79551627606 scopus 로고    scopus 로고
    • Twenty-five novel mutations including duplications in the ATP7A gene
    • Moizard MP, Ronce N, Blesson S et al. Twenty-five novel mutations including duplications in the ATP7A gene. Clin Genet 2010: 79: 243-253.
    • (2010) Clin Genet , vol.79 , pp. 243-253
    • Moizard, M.P.1    Ronce, N.2    Blesson, S.3
  • 6
    • 63149198301 scopus 로고    scopus 로고
    • Copy number variants, diseases and gene expression
    • Henrichsen CN, Chaignat E, Reymond A. Copy number variants, diseases and gene expression. Hum Mol Genet 2009: 18 (R1): R1-R8.
    • (2009) Hum Mol Genet , vol.18 , Issue.R1
    • Henrichsen, C.N.1    Chaignat, E.2    Reymond, A.3
  • 7
    • 38949106566 scopus 로고    scopus 로고
    • Neonatal diagnosis and treatment of Menkes disease
    • Kaler SG, Holmes CS, Goldstein DS et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med 2008: 358: 605-614.
    • (2008) N Engl J Med , vol.358 , pp. 605-614
    • Kaler, S.G.1    Holmes, C.S.2    Goldstein, D.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.